Article
Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.
Biochimica et biophysica acta - 14 Apr 1992
McInnes B, Brown C A, Mahuran D J
Abstract excerpt
Lysosomal beta-hexosaminidase (EC 3.2.1.52) occurs as two major isozymes hexosaminidase A (alpha beta) and B (beta beta). The alpha subunit is encoded by the HEXA gene and the beta subunit by HEXB gene. Defects in the alpha or beta subunits lead to Tay-Sachs or Sandhoff disease, respectively. Whi...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- Cell Line
- Codon
- Heterozygote
- Hexosaminidase A
- Hexosaminidase B
- Humans
- Infant
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Sandhoff Disease
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases